InSiGHT MMR and APC Variant Interpretation Committee: By invitation only

Room: Epsom 3

Public Evening: Familial Bowel Cancer Syndromes - an update and international perspective

1900 - 1930

Registration and tea/coffee

1930 - 1935

WelcomeSusan Parry

1935 - 1940

Cancer Society Auckland/NorthlandAlistair Burry

1940 - 1955

Update on diagnosis and managementPatrick Lynch

1955 - 2025

Panel: What is happening in other countries?Ian Frayling, Nicoline Hoogerbrugge, Finlay Macrae

2025 - 2030

What is happening in New Zealand?Julie Arnold

2030 - 2100

Discussion

Patrick Lynch

Patrick Lynch is Professor of Medicine, Department of Gastroenterology, Hepatology, Nutrition, University of Texas MD Anderson Cancer Centre. He has been a member of InSiGHT since its inception and was Co-chair 2009-11. He was a member of the predecessor organisations, the LCPG and ICG-HNPCC. His current interest is the development of a web-based platform for communication of risk information within mutation-positive families. He ran the 2016 New York Marathon to raise funds for InSiGHT.

Ian Frayling

Ian qualified in Clinical Medicine at Cambridge. After initial training in all branches of pathology, he studied DNA repair for his PhD. He is the only Genetic Pathologist in NHS service, at the Institute of Medical Genetics, Cardiff.

Ian was the Family Cancer Clinic Research Fellow at St Mark's Hospital, 1993-1998. He now concentrates on variant interpretation, genotype-phenotype correlations and systematic testing of incident cancers to identify hereditary cases. He is a Fellow of the Royal College of Pathologists, a UK National External Quality Assessor of MMR IHC, an Honorary Senior Clinical Research Fellow at Cardiff University, and a Visiting CI at Cancer Council New South Wales. He is a co-author on the upcoming 5th Edition of the WHO/IARC Classification of Tumours "Blue Books" series. (orcid.org/0000-0002-3420-0794)

Ian is also a member of InSiGHT Council and the Variant Interpretation Committee; a member of CGAICC; the steering group of the Prospective Lynch Syndrome Database; an Honorary Medical Adviser to Lynch Syndrome UK; and Treasurer of the UK Cancer Genetics Group, inter alia.

In 2017, Ian was conferred with Honorary Fellowship of the Faculty of Pathology of the Royal College of Physicians of Ireland in recognition of his outstanding lifetime contribution to the practice of pathology and received the Association of Clinical Pathologists' Dyke Foundation Medal. He will deliver the Goudie Medal lecture in January 2019 at the Pathological Society's Winter Meeting.

Nicoline Hoogerbrugge

Prof Nicoline Hoogerbrugge, MD, PhD, is full professor in hereditary cancer at Radboud University Medical Center, Nijmegen, The Netherlands. Her ambition is to improve detection, diagnosis and treatment of hereditary cancer and prevent cancer in relatives. She is the coordinator of the European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) (www.genturis.eu).

Over the last 5 years, her work has mainly focused on the implementation of current knowledge in hereditary cancer and finding new genetic factors for gastrointestinal cancer.

Her research in the past 5 years resulted in:

Detection of various new genetic risk factors for gastrointestinal cancer

Knowledge on the psychosocial impact of hereditary gastrointestinal cancer

Development of the first steps towards vaccination for the prevention of colorectal cancer in Lynch Syndrome

Finlay Macrae

Finlay Macrae is Professor in the Department of Medicine, University of Melbourne, Australia and Head of Colorectal Medicine and Genetics at The Royal Melbourne Hospital. He was a founding member of the antecedent Leeds Castle Polyposis Group, and instigated creation of the InSiGHT MMR database, its Variant Interpretation Committee, and the association with the Human Variome Project.

Thursday 21 March

0700 - 1830

Registration desk open

0830 - 0835

Official opening - Mihi Whakatau

0835 - 0840

Official openingAshley Bloomfield,Director General of Health

0840 - 0845

Official openingSusan Parry, InSiGHT Chair

0845 - 0900

Chair: Susan Parry, Maurizio Genuardi

KAY NEALE LECTURE

Gastrointestinal hereditary tumours: What we know and what we need to know?Sue Clark

UK National External Quality Assessment Scheme for Immunocytochemistry and In Situ Hybridisation: 10 years of international experience with mismatch repair proteins shows that participation improves performanceIan Frayling

"When do I tell my family, what do I tell them?"; the importance of psychological adaptation to a genetic diagnosis before patients are able to share information about their diagnosis – findings from the Family Web study. Selina Goodman

ATZ Neoplasia: A comprehensive examination of a dangerous phenomenonJames Church

Safety and efficacy of laparoscopic near-total colectomy and ileo-distal sigmoid anastomosis as a modification of total colectomy and ileorectal anastomosis for prophylactic surgery in patients with adenomatous polyposis syndromes– a comparative studyChukwuemeka Anele

1030 - 1100

Morning tea

1100 - 1115

Chair: Sue Clark, Ian Bissett

Free papers - 5 minutes each followed by 5 minutes discussion

The Impact of Desmoid Tumors on Quality of Life and Pouch Survival, in patients with Familial Adenomatous Polyposis who have undergone Ileal Pouch-Anal AnastomosisJames Church

Laparotomy results in more desmoid tumour when compared to laparoscopy in a preclinical model of desmoid tumour in familial adenomatous polyposisTimothy Chittleborough